Biochemistry Flashcards
scale for photosensitivity of skin
Fitzpatrick skin scale
main groups of prophyria’s
- phototoxic
- blistering and fragility
- acute attack
- severe congenital porphyria
example of phototoxic porphyria
erythropoietic protoporphyria
example of severe congenital porphyria
congenital erythropoietic porphyria
two common porphyria’s
- porphyria cutanea tarda type 1
2. erythropoietic protoporphyria
PCT type 1 enzyme
deficiency in uroporphyrinogen decarboxylase
cause of PCT type 1
chronic liver disease or excess iron in the liver
presentation of PCT type 1
blisters, hyperpigmentation, hypertrichosis, solar urticaria and morphoea
Erythropoietic protoporphyria enzyme
ferrochelatase
Erythropoietic protoporphyria diagnosis and management
Investigations are RBC, fluorocytes, USS of biliary tract. Management is 6-month LFTs, RBC porphyrins and photoprotection measures.